ClinVar Miner

Submissions for variant NM_001348800.3(ZBTB20):c.1939A>C (p.Ser647Arg)

dbSNP: rs1576220405
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000984032 SCV000930642 pathogenic Primrose syndrome 2019-06-16 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Strasbourg University Hospital RCV001260823 SCV001437919 pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873236 SCV002130283 uncertain significance not provided 2021-06-25 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with ZBTB20-related conditions. ClinVar contains an entry for this variant (Variation ID: 638662). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with arginine at codon 647 of the ZBTB20 protein (p.Ser647Arg). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and arginine.

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